Variant report

Variant	nsv1053466
Chromosome Location	chr12:51350285-51375969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51358068..51360086-chr12:51362108..51364420,3	K562	blood:
2	chr12:51375354..51377058-chr12:51377116..51379193,2	MCF-7	breast:
3	chr12:51355170..51357376-chr12:51359350..51361251,2	K562	blood:
4	chr12:51363073..51365710-chr12:51419692..51421851,2	MCF-7	breast:
5	chr12:51365539..51368263-chr12:51371377..51373519,2	K562	blood:
6	chr12:51158132..51159904-chr12:51373317..51375044,2	K562	blood:
7	chr12:51355170..51357376-chr12:51359350..51361251,2	K562	blood:
8	chr12:51358068..51360086-chr12:51362108..51364420,3	K562	blood:
9	chr12:51345899..51348517-chr12:51349158..51350888,2	MCF-7	breast:
10	chr12:51365371..51368263-chr12:51372019..51374890,3	K562	blood:
11	chr12:51358502..51360086-chr12:51361508..51364420,2	K562	blood:
12	chr12:51331181..51333310-chr12:51354155..51356249,2	MCF-7	breast:
13	chr12:51365539..51368263-chr12:51371377..51373519,2	K562	blood:
14	chr12:51374686..51375471-chr15:91446205..91447068,2	Hela-S3	cervix:
15	chr12:51349059..51351972-chr12:51418064..51419809,2	K562	blood:
16	chr12:51365371..51368263-chr12:51372019..51374890,3	K562	blood:
17	chr12:51358502..51360086-chr12:51361508..51364420,2	K562	blood:
18	chr12:51350478..51352237-chr12:51384337..51386123,2	MCF-7	breast:
19	chr12:51359035..51361366-chr20:39365252..39366772,2	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC11A2	hsa-miR-122-5p	chr12:51375300-51375321
2	SLC11A2	hsa-let-7d-5p	chr12:51374205-51374225

Variant related genes	Relation type
ENSG00000214511	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000196547	chromatin interactions

Extended variants
information (count: 929 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs319936	chr12:51350285-51350286	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563567197	chr12:51350295-51350296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11169631	chr12:51350306-51350307	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542782986	chr12:51350307-51350308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562073379	chr12:51350326-51350327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74275662	chr12:51350418-51350419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190211325	chr12:51350512-51350513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527798670	chr12:51350560-51350561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547456415	chr12:51350646-51350647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564141404	chr12:51350666-51350667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533115591	chr12:51350677-51350678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545924792	chr12:51350773-51350774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs71089716	chr12:51350774-51350775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550100851	chr12:51350775-51350776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570307300	chr12:51350788-51350789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74923040	chr12:51350849-51350850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546542495	chr12:51350990-51350991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35884257	chr12:51350999-51351000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs397851129	chr12:51351010-51351011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76836713	chr12:51351013-51351014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549570707	chr12:51351032-51351033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12820942	chr12:51351033-51351034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2544019	chr12:51351052-51351053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs557848813	chr12:51351104-51351105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577755152	chr12:51351131-51351132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560986868	chr12:51351149-51351150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11169632	chr12:51351189-51351190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557318365	chr12:51351242-51351243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71443207	chr12:51351261-51351262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573860856	chr12:51351282-51351283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183197391	chr12:51351290-51351291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374166423	chr12:51351405-51351406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141105048	chr12:51351422-51351423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572903196	chr12:51351433-51351434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371076499	chr12:51351434-51351435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7960364	chr12:51351450-51351451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552646364	chr12:51351454-51351455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7960268	chr12:51351457-51351458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7960373	chr12:51351465-51351466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7960378	chr12:51351479-51351480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7960382	chr12:51351488-51351489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150279296	chr12:51351556-51351557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371690503	chr12:51351636-51351637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533201156	chr12:51351661-51351662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549749108	chr12:51351662-51351663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553186758	chr12:51351693-51351694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111805684	chr12:51351716-51351717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374905395	chr12:51351721-51351722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71089717	chr12:51351768-51351769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186112402	chr12:51351798-51351799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
2	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
4	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
6	chr12:51331800-51353800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:51331800-51382000	Weak transcription	Ovary	ovary
9	chr12:51332600-51354400	Weak transcription	Thymus	Thymus
10	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
11	chr12:51340000-51361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
13	chr12:51341800-51372600	Weak transcription	Osteobl	bone
14	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
15	chr12:51342200-51361200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:51342400-51360000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:51342800-51378400	Weak transcription	NHLF	lung
19	chr12:51343000-51355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:51343000-51366200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:51343200-51361600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:51343400-51355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51343600-51366200	Weak transcription	Gastric	stomach
24	chr12:51344000-51361400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
26	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
27	chr12:51345000-51361200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:51345600-51354000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:51347000-51360600	Weak transcription	Fetal Stomach	stomach
30	chr12:51347000-51361200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:51347200-51360200	Weak transcription	Lung	lung
32	chr12:51347200-51361400	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:51347200-51362000	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:51347200-51378000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:51347400-51360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:51347400-51378000	Weak transcription	Brain Anterior Caudate	brain
37	chr12:51348000-51360400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:51349000-51360600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:51349200-51363600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:51350400-51350800	Enhancers	Fetal Lung	lung
41	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
42	chr12:51351000-51351600	Enhancers	GM12878-XiMat	blood
43	chr12:51351200-51365200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:51353600-51355800	Enhancers	Fetal Thymus	thymus
45	chr12:51353800-51354000	Enhancers	A549	lung
46	chr12:51353800-51354200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:51353800-51354400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:51353800-51354400	Enhancers	Primary T cells from cord blood	blood
49	chr12:51354000-51354200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:51354000-51354200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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